Canonical Allele Identifier: CA379788045

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417431A>G (hg19) ; chr11:g.17395884A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395884A>G , CM000673.2:g.17395884A>G	GRCh38
NC_000011.9:g.17417431A>G , CM000673.1:g.17417431A>G	GRCh37
NC_000011.8:g.17374007A>G	NCBI36
NG_008867.1:g.86019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3767T>C
ENST00000528374.2:c.757T>C
ENST00000529967.6:n.2505T>C
ENST00000532220.2:n.3399T>C
ENST00000642611.2:n.5366T>C
ENST00000644057.2:n.609T>C
ENST00000645004.2:n.1665T>C
ENST00000682051.1:n.4328T>C
ENST00000682110.1:n.4381T>C
ENST00000682140.1:c.4032T>C	ENSP00000507829.1:p.Ser1344=
ENST00000682185.1:n.5471T>C
ENST00000682204.1:c.*2304T>C	ENSP00000507094.1:n.*2304T>C
ENST00000682215.1:n.4748T>C
ENST00000682288.1:c.*2597T>C	ENSP00000507506.1:n.*2597T>C
ENST00000682442.1:n.4601T>C
ENST00000682528.1:n.4458T>C
ENST00000682673.1:n.4325T>C
ENST00000682805.1:n.4786T>C
ENST00000682965.1:c.*588T>C	ENSP00000508229.1:n.*588T>C
ENST00000683093.1:n.5465T>C
ENST00000683136.1:c.4049T>C	ENSP00000507768.1:p.Leu1350Pro
ENST00000683153.1:n.4423T>C
ENST00000683365.1:n.4483T>C
ENST00000683377.1:n.4381T>C
ENST00000683456.1:c.*1303T>C	ENSP00000508318.1:n.*1303T>C
ENST00000683522.1:n.4381T>C
ENST00000683562.1:c.*2335T>C	ENSP00000508265.1:n.*2335T>C
ENST00000683693.1:n.5813T>C
ENST00000683725.1:c.4166T>C	ENSP00000507496.1:p.Leu1389Pro
ENST00000684010.1:n.4376T>C
ENST00000684157.1:n.5366T>C
ENST00000684253.1:n.4284T>C
ENST00000684288.1:c.*2338T>C	ENSP00000507143.1:n.*2338T>C
ENST00000684313.1:n.3813T>C
ENST00000684332.1:n.4454T>C
ENST00000684371.1:n.4487T>C
ENST00000684404.1:n.5409T>C
ENST00000684442.1:n.4605T>C
ENST00000684555.1:c.*2378T>C	ENSP00000507705.1:n.*2378T>C
ENST00000684571.1:c.4007T>C	ENSP00000506935.1:p.Leu1336Pro
ENST00000684593.1:c.*3871T>C	ENSP00000507005.1:n.*3871T>C
ENST00000684711.1:c.*2562T>C	ENSP00000506841.1:n.*2562T>C
ENST00000302539.9:c.4169T>C	ENSP00000303960.4:p.Leu1390Pro
ENST00000389817.8:c.4166T>C MANE Select	ENSP00000374467.4:p.Leu1389Pro
ENST00000642271.1:c.4163T>C	ENSP00000493749.1:p.Leu1388Pro
ENST00000642579.1:c.2220T>C
ENST00000642611.1:n.5251T>C
ENST00000642902.1:c.3948T>C
ENST00000643260.1:c.4166T>C	ENSP00000494450.1:p.Leu1389Pro
ENST00000643562.1:c.*2288T>C	ENSP00000496124.1:n.*2288T>C
ENST00000643925.1:c.2806T>C
ENST00000644057.1:n.243T>C
ENST00000644484.1:c.*3552T>C	ENSP00000493558.1:n.*3552T>C
ENST00000644675.1:c.*2338T>C	ENSP00000494567.1:n.*2338T>C
ENST00000644757.1:c.*3202+380T>C	ENSP00000495085.1:n.*3202+380T>C
ENST00000644772.1:c.4232T>C	ENSP00000494321.1:p.Leu1411Pro
ENST00000645004.1:n.1859T>C
ENST00000645076.1:c.3365T>C
ENST00000645417.1:c.1354T>C
ENST00000645744.1:c.*3931T>C	ENSP00000494564.1:n.*3931T>C
ENST00000645760.1:c.4587T>C
ENST00000645884.1:c.*1449T>C	ENSP00000495516.1:n.*1449T>C
ENST00000646003.1:c.*2268T>C	ENSP00000495259.1:n.*2268T>C
ENST00000646207.1:c.*3003T>C	ENSP00000495025.1:n.*3003T>C
ENST00000646276.1:c.*3570T>C	ENSP00000496070.1:n.*3570T>C
ENST00000646592.1:c.3472T>C
ENST00000646902.1:c.4133T>C	ENSP00000494101.1:p.Leu1378Pro
ENST00000646993.1:c.*2708T>C	ENSP00000493720.1:n.*2708T>C
ENST00000647013.1:c.4172T>C	ENSP00000496741.1:n.4172T>C
ENST00000647015.1:c.3917T>C	ENSP00000495389.1:p.Leu1306Pro
ENST00000647086.1:c.*3752T>C	ENSP00000493677.1:n.*3752T>C
ENST00000647158.1:c.*2453T>C	ENSP00000495744.1:n.*2453T>C
ENST00000302539.8:c.4169T>C	ENSP00000303960.4:p.Leu1390Pro
ENST00000389817.7:c.4166T>C	ENSP00000374467.3:p.Leu1389Pro
ENST00000525022.1:n.32T>C
ENST00000526168.5:c.34T>C
ENST00000531642.5:c.2T>C
NM_000352.4:c.4166T>C	NP_000343.2:p.Leu1389Pro
NM_001287174.1:c.4169T>C	NP_001274103.1:p.Leu1390Pro
XM_011520331.1:c.4166T>C	XP_011518633.1:p.Leu1389Pro
XM_011520332.1:c.4169T>C	XP_011518634.1:p.Leu1390Pro
XM_011520333.1:c.2666T>C	XP_011518635.1:p.Leu889Pro
XR_930890.1:n.4232T>C
NM_001351295.1:c.4232T>C	NP_001338224.1:p.Leu1411Pro
NM_001351296.1:c.4166T>C	NP_001338225.1:p.Leu1389Pro
NM_001351297.1:c.4163T>C	NP_001338226.1:p.Leu1388Pro
NR_147094.1:n.4461T>C
XM_017018197.2:c.4235T>C	XP_016873686.1:p.Leu1412Pro
XM_017018199.1:c.4232T>C	XP_016873688.1:p.Leu1411Pro
XM_017018201.2:c.4235T>C	XP_016873690.1:p.Leu1412Pro
XM_017018202.1:c.2732T>C	XP_016873691.1:p.Leu911Pro
XM_017018204.1:c.2123T>C	XP_016873693.1:p.Leu708Pro
XM_024448668.1:c.2534T>C	XP_024304436.1:p.Leu845Pro
XR_001747945.2:n.4307T>C
XR_001747946.2:n.4238T>C
XR_002957189.1:n.5888T>C
NM_000352.6:c.4166T>C MANE Select	NP_000343.2:p.Leu1389Pro
NM_001287174.2:c.4169T>C	NP_001274103.1:p.Leu1390Pro
NM_001351295.2:c.4232T>C	NP_001338224.1:p.Leu1411Pro
NM_001351296.2:c.4166T>C	NP_001338225.1:p.Leu1389Pro
NM_001351297.2:c.4163T>C	NP_001338226.1:p.Leu1388Pro
NR_147094.2:n.4461T>C
NM_001287174.3:c.4169T>C	NP_001274103.1:p.Leu1390Pro